HGMD

Sourcing multiple databases for NGS variant discovery

1,739 views
June 01, 2016
In this webinar we reveal content and use of manually curated annotation databases provided by QIAGEN, such as HGMD (standard reference for inherited disease causing and disease associated mutations), PGMD (comprehensive database of pharmacogenomics variants), and Genome Trax (combination of HGMD, PGMD, and over 20 additional databases). We also discuss different options of annotation tools, as ANNOVAR and CLC Workbenches that are compatible with these databases.

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